Short Stature Associated with a Novel Heterozygous Mutation in theInsulin-Like Growth Factor 1Gene
نویسندگان
چکیده
منابع مشابه
Heterozygous GHR gene mutation in a child with idiopathic short stature.
Several monogenic defects have been reported to be associated with idiopathic short stature. Focusing on growth hormone receptor (GHR)-gene alterations, the heterozygosity of the same gene defect may be associated with a range of growth deficits. We found a heterozygous mutation (V144I) within exon 6 of the GHR gene in a patient with a low level of insulin-like growth factor I (IGF-I), normal l...
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BACKGROUND Recently, whole exome sequencing identified heterozygous defects in the aggrecan (ACAN) gene in three families with short stature and advanced bone age. OBJECTIVE We report a novel frameshift mutation in ACAN in a family with dominantly inherited short stature, advanced bone age, and premature growth cessation. This is the first case of targeted sequencing of ACAN in this phenotype...
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The aim of the present study was to detect polymorphism in Insulin like growth factor-I (IGF-I) gene of beluga (Huso huso) fish using PCR-SSCP technique and also investigation of its association with growth traits (condition factor, body length and weight). A total of 150 specimens of beluga were randomly selected and DNA was isolated from caudal fin using modified salting out method. Then two ...
متن کاملInsulin-like growth factor I gene polymorphism associated with growth traits in beluga (Huso huso) fish
The aim of the present study was to detect polymorphism in Insulin like growth factor-I (IGF-I) gene of beluga (Huso huso) fish using PCR-SSCP technique and also investigation of its association with growth traits (condition factor, body length and weight). A total of 150 specimens of beluga were randomly selected and DNA was isolated from caudal fin using modified salting out method. Then two ...
متن کاملA novel heterozygous IGF-1 receptor mutation associated with hypoglycemia
Mutation in the insulin-like growth factor-1 receptor (IGF1R) gene is a rare cause for intrauterine and postnatal growth disorders. Patients identified with IGF1R mutations present with either normal or impaired glucose tolerance. None of the cases described so far showed hypoglycemia. We aimed to identify the genetic basis for small for gestational age, short stature and hypoglycemia over thre...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2010
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2010-0511